AIM: To investigate the relationship between gallbladderstone disease (GSD) and single nucleotide polymorphismsof cholesterol 7α-hydroxylase (CYP7A) gene promoter,apolipoprotein (APO) B gene exon 26,APOEgene exon 4 ormicrosatellite polymorphism of low density lipoproteinreceptor (LDLR) gene exon 18.METHODS: Genotypes of CYP7A,APOB,APOE and LDLRgenes were determined in 105 patients with GSD diagnosedby B-mode ultrasonography and 274 control subjects.Serum lipids were analyzed with HITACHI 7060 automaicbiochemical analyzer.RESULTS: Body mass index (BMI) was significantly higher inpatients with GSD (24.47±3.09) than in controls (23.50±2.16).Plasma total cholesterol was lower in patients with GSD(4.66±0.92 mmol/L) than in controls (4.91±0.96 mmol/L),P<0.01 after adjusted for age,sex and BMI.The significantlyhigher frequency of A allele of CYP7A gene polymorphismand X+ allele of APOBgene polymorphism was seen in GSDpatients.Percentages of A allele in patients and controlswere 62.86% and 54.38% (P<0.05) and those of X+ allele8.57% and 4.01% (P<0.01).Subjects with A allele hadsignificantly lower plasma total cholesterol and LDLcholesterol than subjects with CC homozygote.In a multiplevariable logistic regression model,the BMI (OR=1.13,95%CI: 1.05-1.22),A allele (OR=1.48,95% CI: 1.05-2.09) andX+ allele (OR=2.28,95% CI: 1.14-4.59) were positivelyassociated with GSD (P<0.05).Plasma total cholesterol(OR=0.69,95% CI: 0.64-0.74) was negatively related toGSD (P<0.05).CONCLUSION: With an association analysis,it was determinedthat A allele of CYP7A gene and X+ allele of APOB genemight be considered as risk genes for GSD.These allelesare related with differences of serum lipids among subjects.Multiple-variable logistic regression model analysis showedthat besides BMI,GSD was affected by polygenetic factors.But the mechanism for these two alleles responsible for GSDrequires further investigations. AIM: To investigate the relationship between gallbladderstone disease (GSD) and single nucleotide polymorphisms of cholesterol 7α-hydroxylase (CYP7A) gene promoter, apolipoprotein (APO) B gene exon 26, APOEgene exon 4 ormicrosatellite polymorphism of low density lipoprotein receptor (LDLR) gene exon 18 .METHODS: Genotypes of CYP7A, APOB, APOE and LDLRgenes were determined in 105 patients with GSD diagnosed by B-mode ultrasonography and 274 control subjects. Serum lipids were analyzed with HITACHI 7060 automaicbiochemical analyzer .RESULTS: Body mass index (BMI) was significantly higher inpatients with GSD (24.47 ± 3.09) than in controls (23.50 ± 2.16) .Plasma total cholesterol was lower in patients with GSD (4.66 ± 0.92 mmol / L) than in controls (4.91 ± 0.96 mmol / L) adjusted for age, sex and BMI. Significant frequency of A allele of CYP7A gene polymorphism X + allele of APOBgene polymorphism was seen in GSD patients. Patients of A allele in patients and controlswere 62.86% an Subjects with A allele had lower statistically lower plasma total cholesterol and LDL cholesterol than subjects with CC homozygote. in a multiple variable logistic regression model, the d 54.38% (P <0.05) and those of X + allele 8.57% and 4.01% A allele (OR = 1.48, 95% CI: 1.05-2.09) and X + allele (OR = 2.28, 95% CI: 1.14-4.59) were positively associated with GSD (OR = 1.13, 95% CI: 1.05-1.22) P <0.05) .Plasma total cholesterol (OR = 0.69,95% CI: 0.64-0.74) was negatively related to GSD (P <0.05) .CONCLUSION: With an association analysis, it was determined that A allele of CYP7A gene and X + allele of APOB genemight be considered as risk genes for GSD. These allelesare related with differences in serum lipids among subjects.Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors.But the mechanism for these two alleles responsible for GSDrequires further investigations.